Novel Point Mutation of EBSS Gene Coexisted with 1p36 Deletion

EBSS (epidermolysis bullosa simplex superficialis) is mainly caused by gene mutations which targeted protein as plakophilin1, desmoplakin and keratins. 1p36 gene deleted could cause typical clinical manifestations and might also affect the expression of functional genes in other regions. Here we rep...

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Detalles Bibliográficos
Autores principales: Zheng, Yue, Xu, Qingfang, Lai, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Dermatological Association; The Korean Society for Investigative Dermatology 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8460473/
https://www.ncbi.nlm.nih.gov/pubmed/34616129
http://dx.doi.org/10.5021/ad.2021.33.5.463
Descripción
Sumario:EBSS (epidermolysis bullosa simplex superficialis) is mainly caused by gene mutations which targeted protein as plakophilin1, desmoplakin and keratins. 1p36 gene deleted could cause typical clinical manifestations and might also affect the expression of functional genes in other regions. Here we reported the first case of PKP1 gene and DSP gene mutation coexisted with 1p36 deletion presented as serious EBSS and 1p36 deletion syndromes and identified a new homozygous mutation in the PKP1 gene (chr1:201292246 c.1672 T>C) and in the DSP gene (chr6:7580346 c.3923C>T).

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